Familial Hypercholesterolaemia

Research Review E-Learning Module

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Familial Hypercholesterolaemia

This Research Review E-Learning Module is intended for New Zealand GPs and cardiologists, and covers the epidemiology of familial hypercholesterolaemia (FH), risk factors associated with the disease, diagnosis and treatment. 


Before starting the module please read the Research Review Educational Series publication, accessed through the link below:

CLICK HERE
to access the quiz source material
Educational Series - Familial Hypercholesterolaemia

The PDF through the link above can be viewed on screen, saved and printed.


This E-Learning Module covers:

  • Genetic basis of FH.
  • Epidemiology of FH.
  • Risks associated with FH.
  • Screening for FH.
  • Diagnosis of FH.
  • Management of FH.

Learning outcomes

After completing this E-learning module you should have an improved understanding of:

  • The genetic basis of FH.
  • The epidemiology of FH.
  • The risks associated with FH.
  • How to screen for FH.
  • How to make a diagnosis of FH.
  • Appropriate management of FH.

Contributing experts

Expert commentary is provided by Professor Russell S Scott (Endocrinologist), Nikki Reid (Clinical Nurse Specialist) and Associate Professor Susan Wells (Public Health Physician). 

Module questions have been developed by Dr Chris Tofieldwho works in primary care skin cancer treatment, is clinical advisor at Bay of Plenty District Health Board, and consultant to Research Review.

Accreditation

“Familial Hypercholesterolaemia” E-Learning Module has been endorsed by The Royal New Zealand College of General Practitioners (RNZCGP) and has been approved for up to 1 CME credit for the General Practice Educational Programme (GPEP) and Continuing Professional Development (CPD) purposes.
Further info

References

  1. Sharifi M et al Genetic architecture of familial hypercholesterolaemia. Curr Cardiol Rep. 2017;19(5):44
  2. Alonso R et al. Familial hypercholesterolaemia diagnosis and management. Eur Cardiol. 2018;13(1):14-20
  3. Hopkins PN et al. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 Suppl.):S9–17
  4. Nordestgaard BG et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34:3478-90a
  5. Henderson R et al. The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016;23:39
  6. Austin MA et al. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol. 2004; 160:421-9
  7. Cuchel M et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014; 35:2146–57
  8. Goldberg AC et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 Suppl.):S1-8
  9. Youngblom E et al. Familial hypercholesterolemia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA):1993
  10. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2(7635):1380-2
  11. Iyen B et al. Risk of cardiovascular disease outcomes in primary care subjects with familial hypercholesterolaemia: A cohort study. Atherosclerosis 2019;287:8-15
  12. Galema-Boers AM et al. Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy. J Clin Lipidol. 2018;12(2):409-16
  13. Watts GF et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014;171:309-25
  14. Muir LA et al. Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand. N Z Med J. 2010; 123:97-102
  15. Muir LA et al. Using the experiences of people with familial hypercholesterolaemia to help reduce the risk of cardiovascular disease: a qualitative systematic review. J Adv Nurs. 2012;68(9):1920-32
  16. The Cardiac Society of Australia and New Zealand (CSANZ). Diagnosis and management of familial hypercholesterolaemia – position statement. Available from: https://www.csanz.edu.au/wp-content/uploads/2017/07/Familial-Hypercholesterolaemia_ratified_-25-Nov-2016.pdf (Accessed June 2019)
  17. July M et al. Familial hypercholesterolemia. Available from: https://emedicine.medscape.com/article/121298-overview (Accessed June 2019) 18. Watts GF et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl. 2011; 12:221-63
  18. FH Australasia Network. Welcome to FH Australasia Network. Available from: https://www.athero.org.au/fh/ (Accessed June 2019)
  19. Ministry of Health. Cardiovascular disease risk assessment and management for primary care. 14 Feb 2018. Available from: https://www.health.govt.nz/publication/cardiovascular-disease-risk-assessment-and-management-primary-care (Accessed June 2019)
  20. FH Australasia Network. How to diagnose FH. Available from: https://www.athero.org.au/fh/health-professionals/how-to-diagnose-fh/ (Accessed June 2019)
  21. Sturm AC et al. Clinical genetic testing or familial hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol. 2018;72(6):662-80
  22. Rosso A et al. The cost-effectiveness of genetic screening for familial hypercholesterolemia: a systematic review. Ann Ig. 2017;29(5):464-80
  23. Reiner Z et al. ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J. 2011;32:1769-18.
  24. Wiegman A et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimising detection and treatment. Eur Heart J. 2015; 36:2425-37
  25. Robinson JG and Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol. 2011;5(3 Suppl.):S18-29
  26. Stancu C and Sima A. Statins: mechanism of action and effects. J Cell Mol Med. 2001; 5:378-87
  27. Bell DA and Watts GF. Progress in the care of familial hypercholesterolaemia: 2016. Med J Aust. 2016;205(5):232-6
  28. Medsafe NZ. Praluent Data Sheet. Available from: https://medsafe.govt.nz/profs/Datasheet/p/praluentinj.pdf (Accessed June 2019)
  29. Medsafe NZ. Repatha Data Sheet. Available from: https://www.medsafe.govt.nz/profs/datasheet/r/repathainj.pdf (Accessed July 2019)
  30. Landmesser Ulf et al. 2017 update of ESC/EAS Task Force on practical clinical guidance for proprotein convertase subtilisin/kexin type 9 inhibition in patients with atherosclerotic cardiovascular disease or in familial hypercholesterolaemia. Eur Heat J. 2018; 39:1131-43
  31. Grundy et al. 2018 Guideline on the Management of Blood Cholesterol: A ACC/AHA Task Force. J Am Coll Cardiol. 2019;73(24):e285-e350
  32. 2017 recommendations of the NLA Expert Panel on treatment with PCSK9 inhibitors. Available from: https://www.lipid.org/sites/default/files/files/NLA_PCSK9_2017Rec_Infographic.pdf (Accessed Nov 2018)
  33. Harada-Shiba M et al. Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017. J Atheroscler Thromb. 2018; 25:751-70
  34. Mach et al 2019 ESC/EAS Guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk Eur Heart J 2019
  35. Cholesterol Treatment Trialists’ (CTT) Collaboration. Lancet 2010; 376: 1670–81
  36. Mose J. Familial hypercholesterolemia follow-up. Available from: https://emedicine.medscape.com/article/121298-followup (Accessed June 2019)
  37. Versmissen J et al. Efficacy of statins in familial hypercholesterolaemia: a long-term cohort study. BMJ. 2008;337: a2423
  38. Barkas F et al. Statins decrease the risk of stroke in individuals with heterozygous familial hypercholesterolemia: A systematic review and metaanalysis. Atherosclerosis 2015;243(1):60-4
  39. Avis HJ et al. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2007;27(8):1803-10
  40. Ramaswami U et al. The UK Paediatric Familial Hypercholesterolemia Register: preliminary data. Arch Dis Childhood 2017;102(3):255-60
  41. Raal FJ et al. Familial hypercholesterolemia treatments: Guidelines and new therapies. Atherosclerosis 2018; 277:483-92
  42. Farnier M et al. Long-term safety and efficacy of alirocumab in patients with heterozygous familial hypercholesterolemia: An open-label extension of the ODYSSEY program. Atherosclerosis 2018;278:307-14
  43. Santos R et al. Long-term evolocumab use in subjects with homozygous and severe heterozygous familial hypercholesterolemia: Primary results of the TAUSSIG trial. J Am Coll Cardiol. 2019;73(9 Suppl. 1)
  44. Defesche JC et al. Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia. J Clin Lipidol. 2017;11(6):1338-46
  45. Razek O et al. Attainment of recommended lipid targets in patients with familial hypercholesterolemia: Real-world experience with PCSK9 inhibitors. Can J Cardiol. 2018;34(8):1044-09